浙大医学院附属妇产科医院产科 Company LOGO Normal pregnancy and birth defects HuWenSheng Women’s Hospital School of Medicine Zhejiang University.

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1 浙大医学院附属妇产科医院产科 Company LOGO Normal pregnancy and birth defects HuWenSheng Women’s Hospital School of Medicine Zhejiang University

2 浙大医学院附属妇产科医院产科 Company LOG Normal Pregnancy-- Terminology  Pregnancy The course that the embryo and the fetus grow in the maternal body  Stages of pregnancy 1. Early pregnancy: ≤12 weeks 2. Mid pregnancy: ≥13 weeks,≤27 weeks 3. Late pregnancy:≥28 weeks 4. Term pregnancy:≥37 weeks,<42 weeks

3 浙大医学院附属妇产科医院产科 Company LOG Part I Physiology of Pregnancy

4 浙大医学院附属妇产科医院产科 Company LOG Formation of Embryo  Fertilization 1. Place: oviduct (ampulla) 2. Process capacitation → acrosome reaction→ penetrate the zona pellucida→ second meiosis →zygote

5 浙大医学院附属妇产科医院产科 Company LOG Formation of Embryo  Implantation 1. requirement 1) Disappear of zona pellucida 2) Formation of syncytiotrophoblast 3) Synchronized development of blastocyst and endometrium 4) Adequate progesterone

6 浙大医学院附属妇产科医院产科 Company LOG Formation of Embryo 2. Process 1) morula (day 3) → enter uterine cavity (day 4) → early blastocyst→ late blastocyst (day 6-7) → implantation 2) location→ adherence→ penetration

7 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus  Definition 1. embryo: ≤ 8 weeks 2. Fetus: ≥ 9 weeks, human shape

8 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus  Physiology of fetus 1. Circulation 1) fetus ←→placenta←→ mater 2) 1 umbilical vein (full of oxygen), 2 umbilical artery (lack of oxygen) 3) Mixed blood (vein and artery)

9 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus 2. Hematology 1) Erythropoiesis From yolk sac: 3 weeks From liver: 10 weeks From bone marrow and spleen: term (90%) EPO production: 32 nd week

10 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus 2) Fetal hemoglobin Fetal hemoglobin: early pregnancy Adult hemoglobin: 32 nd week Term: fetal type Hb 25% 3) White cells Leukocytes: 8 week Lymphocytes (antibody production): 12 week, thymus and spleen

11 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus 3. Gastrointestinal tract 1) drink amniotic fluid: 4 th month 2) no proteolytic activity 3) enzymatic deficiencies in liver: bilirubin is not easy to be clear.

12 浙大医学院附属妇产科医院产科 Company LOG Development of embryo and fetus 4. Kidney Its function begins at 11-14 th week 5) Endocrinology 1) Fetal thyroid: the first endocrine gland (6 th week), synthesize thyroxine at 12 th week 2) Fetal adrenal cortex: widen (20 th week), a fetal zone. synthesize steroid hormones (E3, liver placenta mater)

13 浙大医学院附属妇产科医院产科 Company LOG Placenta  Structure 1. Primary villus syncytiotrophoblast cytotrophoblast 2. Secondary villus 3. third class vilus fetal capillary enter the stroma

14 浙大医学院附属妇产科医院产科 Company LOG Placenta  Function 1. metabolism 1) Exchange of O 2 and CO 2 2) Exchange of nutritive factors and waste 2. Defensive Limited. IgG, virus, drug

15 浙大医学院附属妇产科医院产科 Company LOG Placenta 3. Endocrine 1) HCG 2) HPL 3) E 4) P 5) Oxytocinase 6) Cytokines and Growth Factors 4. Immunity tolerance

16 浙大医学院附属妇产科医院产科 Company LOG Fetal membranes  Structure chorion and amnion  Amnion A double-layered translucent membrane Become distended with fluid

17 浙大医学院附属妇产科医院产科 Company LOG Umbilical Cord  Structure amnion, yolk sac, one vein, two artery and Wharton jelly  Length 30-70cm

18 浙大医学院附属妇产科医院产科 Company LOG Amniotic fliud  Source 1. exudation of fetal membranes (early pregnancy) 2. Fetal urine 3. Fetal lung 4. Exudation of amnion and fetal skin

19 浙大医学院附属妇产科医院产科 Company LOG Amniotic fliud  Absord 1. Fetal membrane 2. Umbilical cord 3. Fetal skin 4. Fetal drinking  Feature 1000-1500ml at 36 th -38 th week (peak), transparent → slightly turbid

20 浙大医学院附属妇产科医院产科 Company LOG Amniotic Fliud  Function 1. Protect fetal move freely, warm 2. Protect mater prevent infection

21 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  Genital organs 1. Uterus 1) capacity: 5ml-5000ml.weight: 50g-1000g 2) Hypertrophy of muscle cells 3) Endometrium→decidua: basal decidua, capsular decidua, true decidua 4) Contraction: Braxton Hicks 5) Isthmus uteri: 1cm→ 7-10cm

22 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman 6) Cervix: colored 7) Ovary: placenta replaces ovary (10 th week) 8) Vagina: dilated and soft, pH↓(anti-bacteri bacteria) 9) Ligaments: relaxed

23 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  Cardiovascular system 1. Heart: move upward, hypertrophy of cardiac muscle 2. Cardiac Output increase by 30%, reach to peak at 32 nd –34 th week 3. Blood pressure early or mid pregnancy Bp↓.late pregnancy Bp↑.Supine hypotensive syndrome

24 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  Hematology 1. Blood volume 1) Increase by 30%-45% at 32 nd –34 th (peak) 2) Relatively diluted 2. Composition 1) Red cells Hb:130→110g/L, HCT:38%→ 31%. 2) White cells: slightly increase 3) Coagulating power of blood: ↑ 4) Albumin: ↓,35 g/L

25 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  The Respiratory system 1. R rate: slightly ↑ 2. vital capacity: no change 3. Tidal volume: ↑ 40% 4. Functional residual capacity:↓ 5. O 2 consumption: ↑ 20%

26 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  The urinary system 1. Kidney 1) Renal plasma flow (RFP):↑35% 2) Glomerular filtration rate (GFR):↑ 50% 2. Ureter Dilated (P↑) 3. Bladder Frequent micturation

27 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  Gastrointestinal system 1) Gastric emptying time is prolonged→ nausea. 2) The motility of large bowel is diminished → constipation 3) Liver function: unchanged

28 浙大医学院附属妇产科医院产科 Company LOG Physiologic changes in pregnant woman  Endocrine 1. Pituitary (hypertrophy) 1) LH/FSH: ↓ 2) PRL:↑ 3) TSH and ACTH:↑ 2. Thyroid 1) enlarged (TSH and HCG↑) 2) thyroxine↑ and TBG↑ → free T 3 T 4 unchanged

29 浙大医学院附属妇产科医院产科 Company LOG Part Ⅱ Diagnoses of Pregnancy

30 浙大医学院附属妇产科医院产科 Company LOG Presumptive Symptoms  Amenorrhea: strongly suggestive of pregnancy  Nausea and vomiting  Morning sickness of pregnancy  Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)  Begin at 4 weeks and finish at 12 weeks

31 浙大医学院附属妇产科医院产科 Company LOG Probable Signs  Pelvic organs  Chadwick’s sign: vaginal mucosa has bluish color (6-8w)  Goodell’s sign: cyanosis and softening of cervix(6w)  Hegar’s sign: softening between cervix and uterine fundus causes a sensation of separateness between these two structures

32 浙大医学院附属妇产科医院产科 Company LOG Presumptive Symptoms  Breast changes  Tenderness and tingling  Enlargement (second month )  Nodularity (sebaceous glands)  Colostrums secretion (begin after 16 w gestation)  Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)

33 浙大医学院附属妇产科医院产科 Company LOG Secondary breast Breast Enlargement

34 浙大医学院附属妇产科医院产科 Company LOG Presumptive Symptoms  Urinary tract  Frequent urination and nocturia  Infection  Quickening  16-20weeks in primigravidas  14-16 weeks in multigravidas  Fatigue  one of the earliest symptoms of pregnancy  returns to normal by the 16 th to 18 th week

35 浙大医学院附属妇产科医院产科 Company LOG Presumptive signs  Skin changes  Chloasma:darkening of the skin over forehead, bridge of the nose and cheekbones  Linea nigra: darkening of the nipples and lower midline of abdomen  Stretch marks: separation of the underling collagen tissue and appear as irregular scars  Spider telangiectases

36 浙大医学院附属妇产科医院产科 Company LOG Pregnancy test  Urine pregnancy test  Positive around the first missed cycle  Serum pregnancy test: more sensitive  HCG may be detected in maternal serum in 7 days

37 浙大医学院附属妇产科医院产科 Company LOG Presumptive signs  Increased basal body temperature (>18 days)

38 浙大医学院附属妇产科医院产科 Company LOG Ultrasound examination of fetus is one of the most useful technical way Cervical mucus examination Progestational challenge Positive manifestations

39 浙大医学院附属妇产科医院产科 Company LOG Probable Signs  Abdominal enlargement (the uterus rises out of the pelvis and into the abdomen)  Uterine contractions (Braxton hicks contractions)

40 浙大医学院附属妇产科医院产科 Company LOG  Ballottement (16-20w)  Uterine souffle It may be more easily accomplished by a vaginal examination

41 浙大医学院附属妇产科医院产科 Company LOG Positive manifestations  Fetal heart tone (120-160 BPM) Doppler device can detect at 10 weeks

42 浙大医学院附属妇产科医院产科 Company LOG Lie of fetus Longitudinal lie Transverse lie

43 浙大医学院附属妇产科医院产科 Company LOG Fetal presentation  Determined by the portion of the fetus that can be felt through the cervix  Cephalic presentations Classified according to the position of the fetal head in relation to the body of the fetus  Breech presentations Classified according to the position the legs and buttocks which present first

44 浙大医学院附属妇产科医院产科 Company LOG Fetal presentation  Cephalic presentation Vertex Face Brow

45 浙大医学院附属妇产科医院产科 Company LOG Fetal presentation  Breech presentation Complete Incomplete frank

46 浙大医学院附属妇产科医院产科 Company LOG 胎先露：最先进入骨盆入口的胎儿部分

47 浙大医学院附属妇产科医院产科 Company LOG Fetal position

48 浙大医学院附属妇产科医院产科 Company LOG 胎方位：胎儿先露部的指示点与母体骨盆的关系 枕左后（ LOP) 枕右后（ ROP)

49 浙大医学院附属妇产科医院产科 Company LOG 胎方位：胎儿先露部的指示点与母体骨盆的关系 骶右后（ RSP) 肩右前（ RScA)

50 浙大医学院附属妇产科医院产科 Company LOG

51 浙大医学院附属妇产科医院产科 Company LOG Part Ⅲ Antenatal care

52 浙大医学院附属妇产科医院产科 Company LOG Prenatal care  Routine prenatal care  Every 4 weeks during the first 28 weeks of gestation  Every 2 weeks from 28 to 36 weeks  Weekly from 36 weeks to delivery

53 浙大医学院附属妇产科医院产科 Company LOG Initial Visit History  health history  childbearing history  Estimated date of confinement (EDC ） Physical examination  General examination  obstetric examination Accessory examination  Laboratory Tests  US  Examination of cytogenetics

54 Initial Visit  History  health history  childbearing history  Estimated date of confinement (EDC)  Physical examination  Accessory examination General history Previous and current medical disease Diabetes, chronic hypertension Medication Previous surgeries Blood transfusion history Family history

55 Initial Visit  History  health history  childbearing history  Estimated date of confinement (EDC)  Physical examination  Accessory examination Past pregnancies  EGA at the time of delivery or abortion  Fetal outcome  Mode of delivery: vaginal or cesarean section  Complications: GDM, preeclampsia Present pregnancy

56  History  health history  childbearing history  Estimated date of confinement (EDC)  Physical examination  Accessory examination the last normal menstrual period Subtract 3 from (or add 9 to) the month of the last normal menstrual period, and add 7 to the first day of the last normal menstrual period 减 3 加 7 （农历加 15 ） US may be used if the LMP is uncertain Initial Visit

57  History  Physical examination  General examination  obstetric examination  Accessory examination  Height, weight and blood pressure should be recorded  Systolic flow murmur at the left sternal border

58 Initial Visit  History  Physical examination  General examination  obstetric examination  Accessory examination 病史  Fundal height  Abdominal examination  Fetal heart tones  Edema 一般情况 检查

59 浙大医学院附属妇产科医院产科 Company LOG Leopold maneuvers  Palpation of fetus (22 weeks)  Leopold Maneuver to determine the fetal presentation

60 Pelvic examination Pelvic examination )  Assessment of pelvic soft tissue: cervix and uterine  Bony pelvis  external pelvimetry  internal pelvimetry

61 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 孕妇取伸腿仰卧位，两 髂前上棘外缘的距离, 正 常值为 23-26cm  髂棘间径  髂棘间径 Interspinal diameter (IS)

62 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 孕妇取伸腿仰卧位，测 量两髂嵴外缘最宽的距 离，正常值为 25-28cm  髂嵴间径 Intercristal diameter (IC)

63 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 第 5 腰椎棘突 下至耻骨联合上 缘中点的距离， 正常值为 18- 2Ocm  骶耻外径 External conjugate (EC)

64 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 两坐骨结节内侧 缘的距离，正常值 为 8.5-9.5cm  坐骨结节间径或称出口横 径 Transverse outlet

65 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 出口后矢状径 Posterior sagital diameter of outlet 坐骨结节间径中点至骶 骨尖端的长度，正常值 为 8-9cm

66 浙大医学院附属妇产科医院产科 Company LOG External pelvimetry 正常值为 90 度，小于 80 度为不正常，此 角度反映骨盆出口横径的宽度 Angle of pubic arch 耻骨弓角度 Angle of pubic arch

67 浙大医学院附属妇产科医院产科 Company LOG Internal pelvimetry Diagonal conjugate 对 角 径 Diagonal conjugate 为耻骨联合下缘至骶岬上缘中点的距离，正常值为 12.5-13cm ，此值减去 1.5-2m 为骨盆入口前后径长度，又称真结合径。

68 浙大医学院附属妇产科医院产科 Company LOG Internal pelvimetry 两坐骨棘间的距离， 正常值约为 l0cm  坐骨棘间径 Interspinous diameter

69 浙大医学院附属妇产科医院产科 Company LOG Internal pelvimetry 坐骨切迹宽度 坐骨棘与骶骨下部间的距离， 即骶棘韧带宽度，将阴道内的 食指置于韧带上移动，若能容 纳 3 横指 ( 约 5.5-6cm) 为正常， 否则属中骨盆狭窄

70 Initial Visit  History  Physical examination  Accessory examination  Laboratory Tests  Ultrasound examinations  Examination of cytogenetics  Blood screening  Blood routine test  Blood type (ABO and RH)  Detect diseases: rubella, syphilis, hepatitis B, HIV  Screening test for certain diseases according family history  Diabetes screen  Urinalysis  Infectious disease: gonorrhea, chlamydia, group B streptococcus, et al

71 浙大医学院附属妇产科医院产科 Company LOG Subsequent visit History Pregmant women examinations height, abdominal parameter, weight, et Fetal examinations  Estimation of fetal weight  Monitoring fetal well  Prenatal diagnosis

72 浙大医学院附属妇产科医院产科 Company LOG Methods of assessment for fetal at risk  Fetal movement  After 28 weeks, patients should be instructed to do fetal kick counts  Normal: 30 fetal movements in 12 hours

73 浙大医学院附属妇产科医院产科 Company LOG Methods of assessment for fetal at risk  Ultrasound (fetal number, presentation, viability, placental location, gestational age and fetal anatomy, multiple sonographic markers for aneuploidy screening)  Biophysical profile and Doppler velocimetry

74 浙大医学院附属妇产科医院产科 Company LOG Methods of assessment for fetal at risk  External fetal monitoring  Internal fetal monitoring

75 浙大医学院附属妇产科医院产科 Company LOG Fetal heart rate interpretation  Baseline Rate  Normal: 120~160 bpm  Affected by following factors:  Gestational age  Fetal status  Maternal fever \ position \ drugs

76 浙大医学院附属妇产科医院产科 Company LOG

77 浙大医学院附属妇产科医院产科 Company LOG

78 浙大医学院附属妇产科医院产科 Company LOG Periodic changes  Accelerations  Decelerations  Early  Late  Variable  Sinusoidal patterns

79 浙大医学院附属妇产科医院产科 Company LOG

80 浙大医学院附属妇产科医院产科 Company LOG

81 浙大医学院附属妇产科医院产科 Company LOG

82 浙大医学院附属妇产科医院产科 Company LOG

83 浙大医学院附属妇产科医院产科 Company LOG Contraction Stress Test  Adequate contraction pattern  at least 3 contractions of 40 seconds’ duration in a 10-minute period  Negative:  no late or significant VD  Positive:  LD following 50% or more of contractions  Equivocal-suspicious:  intermittent LD or significant VD

84 浙大医学院附属妇产科医院产科 Company LOG Methods of assessment for fetal at risk  NST  Fetal breathing movements  Fetal movement  Fetal tone  Determination of the amniotic fluid volume ----Biophysical profile

85 浙大医学院附属妇产科医院产科 Company LOG Manning 评分

86 浙大医学院附属妇产科医院产科 Company LOG Fetal maturity tests  Lung maturity is essential for normal respiration immediately after birth  Assessment by measuring surface-active lipid components of surfactant (lecithin, phosphatidyl glycerol)

87 浙大医学院附属妇产科医院产科 Company LOG Fetal maturity tests  Methods (measuring surface-active lipid components of surfactant )  Lecithin: Sphingomyelin (L: S) Ratio  Phosphatidylglycerol (PG)  Foam stability index (FSI)

88 浙大医学院附属妇产科医院产科 Company LOG Part Ⅳ Prenatal Screening, Diagnosis and Genetic counseling

89 浙大医学院附属妇产科医院产科 Company LOG What is genetic counselling  The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it, and of the ways in which this may be prevented, avoided or ameliorated

90 浙大医学院附属妇产科医院产科 Company LOG Genetic Counseling  Is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.

91 浙大医学院附属妇产科医院产科 Company LOG WHAT DO GENETIC COUNSELORS DO?  Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.  Identify families at risk, investigate the problem present, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family.

92 浙大医学院附属妇产科医院产科 Company LOG Referral of Clients 1. Those couples who have had a child with a birth defect or known genetic disorder 2. Those who are known to be heterozygous carriers of a specific genetic disease 3. Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family

93 浙大医学院附属妇产科医院产科 Company LOG 4. Those who are experiencing reproductive problems such as infertility, multiple miscarriage, or stillbirths 5. Those who are contemplating marriage to relative or an interracial marriage 6. Those with possible exposure to toxic agents, illness, or mutagens during peregancy 7. Women 35 years of age, and older, who are considering prenatal diagnosis  Genetic counseling is also offered in conjunction with screening programs

94 浙大医学院附属妇产科医院产科 Company LOG Components of genetic counseling (1) Initial interview (2) Obtaining a history and preparing a pedigree (3) Establishing diagnosis (4) Determining and communicating recurrence risks and discussing the disorder (5) Follow-up (6) Evaluation

95 浙大医学院附属妇产科医院产科 Company LOG  This process involves an attempt by one or more appropriately trained persons to help the individual or family. （ 1 ） comprehended the medical facts: diagnosis, probable course of the disorder, & available management. （ 2 ） appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives.

96 浙大医学院附属妇产科医院产科 Company LOG (3) understand the options for dealing with the risk of recurrence. (4) choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision. (5) make the best possible adjustment to the disorder in an affected family and/or to the risk of recurrence of that disorder.

97 浙大医学院附属妇产科医院产科 Company LOG Prenatal Screening, Diagnosis and Treatment  A relatively new field within obstetrics  Related to the advent and advancement of realtime US  Screening: select high-risk individuals at risk for a given diagnosis or complication  Diagnosis: diagnostic and usually far more specific than screening, but bear a greater risk of complications

98 浙大医学院附属妇产科医院产科 Company LOG Screening for genetic diseases  The diseases are passed genetically from parents to their offsping  Autosomal dominant or recessive disease  X-linked disorder  The first step in determining fetal risk is to screen the mother for the diease  Which is ususally done in higher risk groups

99 浙大医学院附属妇产科医院产科 Company LOG Common genetic diseases  Autosomal dominant or recessive disease  Cystic fibrosis 囊性纤维变性  Sickle-cell disease 镰状细胞 ( 贫血 ) 病  Tay-Sachs disease  Thalassemia [θælə'si:miə ] 地中海贫血  X-linked disorders  Hemophilia [hi:mə'filiə] 血友病

100 浙大医学院附属妇产科医院产科 Company LOG Chromosomal abnormalities  Aneuploidy (extra or missing chromosomes)  Generally the cause of these syndromes  Obvious phenotypic differences and congenital anomalies, not always be detected by prenatal US  Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy  Screening test are exist for some syndromes

101 浙大医学院附属妇产科医院产科 Company LOG Chromosomal abnormalities  Trisomy usually results in early abortion  An infant is occasionally born with trisomy or triploidy and survive  Down syndrome(Trisomy 21)  Trisomy 18  Trisomy 13

102 浙大医学院附属妇产科医院产科 Company LOG Sex chromosomal abnormalities  Most common sex chromosome aneuploides  45XO: turner syndrome, monosomy X  47XXY: klinefelter syndrome  The most common aneuploidies are those of sex chromosomes. They are less severely affected than the autosomal aneuploidies  No screening test for these two syndormes  Diagnosed by prenatal diangosis

103 浙大医学院附属妇产科医院产科 Company LOG Fetal congenital anomalies  Primarily arise during embryogenesis, but also can progress as development continues  Occur in any organ system  Neural tube Defects: spina bifida and anencephaly Associated with folate deficency and can be screened  Cardiac Defects  Potter Syndrome

104 浙大医学院附属妇产科医院产科 Company LOG Indications for prenatal diagnosis:  advanced maternal age  previous child with a chromosome abnormality  family history of a chromosome abnormality  family history of single gene disorder  family history of a neural tube defect  family history of other congenital structural abnormalities  abnormalities identified in pregnancy  other high risk factors (consanguinity, poor obst., history, maternal illnesses

105 浙大医学院附属妇产科医院产科 Company LOG Methods of prenatal diagnosis  Invasive:  Amniocentesis  Chorionic villus sampling  Cordocentesis  Preimplatation genetic diagnosis  Fetoscopy  Non-invasive testing:  Maternal serum AFP  Maternal serum screen  Ultrasonography  Isolation of fetal cells from maternal circulation

106 浙大医学院附属妇产科医院产科 Company LOG Prenatal screening  First trimester  US: Nuchal translucency (NT)  Serum screen: HCG+PAPP-A  Second trimester  Triple screen: MSAFP, estriol andβ-hCG  Quad screen: MSAFP, estriol, β-hCG and inhibinA  US

107 浙大医学院附属妇产科医院产科 Company LOG First Trimester  NT (Nuchal translucency)  PAPP-A (pregnancy associated plasma protein-A)  hCG (human chorionic gonadotropin)

108 浙大医学院附属妇产科医院产科 Company LOG Ultrasonography  The mid-trimester anomaly scan: for structural abnormality at 20-22 wks.  Cardiac defect.  NTD: 95% of all spina bifida( lemon sign) ( banana sign)  Gastrointestinal abnormalities: anterior abdominal wall defect( omphalocele and gastroschisis) /obstruction and atresia.  Thoracic abnormalities: congenital diaphragmatic hernia

109 浙大医学院附属妇产科医院产科 Company LOG Prenatal diagnosis  Amniocentesis  Aspiration of 10-20 ml of amniotic fluid through the abdominal wall under ultrasound guidance around the 16 weeks of gestation.  Risk (1/200): rupture of membranes, preterm labor and rarely fetal injury

110 浙大医学院附属妇产科医院产科 Company LOG Prenatal diagnosis  Amniocentesis. 1. Chromosomal analysis: most commonly Down syndrome testing for maternal age, high risk serum tests and ultrasound markers. 2. DNA analysis for genetic disease. 3. Enzyme assays for inborn errors of metabolism. 4. Investigation of fetal lung maturity 5. Bilirubin ( for rhesus iso-immunization)

111 浙大医学院附属妇产科医院产科 Company LOG Prenatal diagnosis  Chorionic villus sampling  It enables diagnosis in first trimester (10-11 week of gest.) under ultrasound guidance by transcervical or transabdominal aspiration of chorionic villi  These are fetal cells drived from the outer layer of trophoblast.  Risk is higher: preterm labor, premature rupture of membrane, previable labor, fetal injury

112 浙大医学院附属妇产科医院产科 Company LOG Prenatal diagnosis  Cordocentesis  Visualisation of the umbilical vessels by transabdominal ultrasound and enabling fetal blood sampling.

113 浙大医学院附属妇产科医院产科 Company LOG Prenatal diagnosis  Fetoscopy  Visualisation of foetus by means of endoscope It can be undertaken to diagnose a subtle structural abnormalities pointing to a serious diagnosis  Can also be used to obtain fetal samples for some diagnosis as inherited skin disorders

114 浙大医学院附属妇产科医院产科 Company LOG Preimplantation genetic diagnosis

115 浙大医学院附属妇产科医院产科 Company LOG