PREGNANCY DIAGNOSIS, FETAL MATURITY AND WELLBEING, FETAL ABNORMALITIES - Professor Joseph G.

Karanja Terminal Objective • The student will be able to diagnose pregnancy, assess and monitor fetal maturity, and maternal and fetal wellbeing, and institute appropriate workup for suspected fetal abnormality Enabling objectives • List the symptoms and signs of early and of later pregnancy • Explain investigations to confirm pregnancy • Describe clinical and other methods of assessing and monitoring of fetal maturity, and fetal wellbeing • State risk factors (indications for investigation) of fetal abnormalities • List tests/investigations for detection of specific fetal abnormalities, including fetal death Diagnosis of pregnancy, estimation of fetal maturity, assessment of fetal wellbeing, and detection of fetal abnormalities, are based on: • History • Physical examination • Tests/investigations Diagnosis of Pregnancy: symptoms in the first trimester • Amenorrhea • Nausea and vomiting • Hyperemesis gravidarum • Fatigue and/or lassitude • Breast symptoms • Urinary symptoms • Constipation • Breast changes: hyperpigmentation of areola, Montigomery’s tubercles (1837) • Uterine changes: Hegar’s sign (1844) • Cervical softening, and bluish coloration • Vaginal changes: bluish/violet coloration - Chadwick’s sign (1886) Symptoms in the second and third trimesters • Dermatologic changes: o Striae gravidarum o linea nigra o Chloasma gravidarum (“mask of pregnancy”) o telangiectases (“spinders”) • Backache: due to increased lordosis • Quickening: 16-18wks multip, 18-20 primi • Enlargement of the abdomen: progressive • Uterine contractions (Braxton Hicks, 1871) • Ballottement • Uterine soufflé: synchronous with maternal pulse (funic soufflé is synchronous with fetal p) • Palpation of fetal parts and fetal movements • Hearing the fetal heart sounds Differential diagnoses • All causes of secondary amenorrhea

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Emotional upsets, infections, GIT disorders may cause nausea/vomiting Various causes of fatigue Mastalgia/mastodynia: fibroadenosis, mastitis, PMS, hormonal imbalance Cystitis, cystocele, emotional problems Constipation: nonspecific, not useful Fibroids, other tumors of uterus Adnexal masses Luteal phase, hormone use (cx, vag) Pseudocyesis, excessive wt. gain Freely mobile ovarian mass (ballotable)

Confirming diagnosis of pregnancy: tests/investigations • Doppler effect instruments: FH sounds • Ultrasound: Gestational sac (5wks), FMs • XRAYS (not used nowadays): ossified bones appear at 1214 wks • Fetal Heart Tones: fetoscope 16-18wks; Doppler 12 wks or earlier • Palpation of fetal movements • Beta hCG based tests o IA: on urine, using slide or test tube o RIA: serum, radioiodinated hCG o RRA (radioreceptor assay) o ELISA: enzyme linked immunoabsorbent assay Pregnancy monitoring 1. Estimation of fetal maturity 2. Assessing fetal wellbeing 3. Detecting fetal abnormalities ESTIMATION OF FETAL MATURITY 1. Naegele’s Rule: Calculation of gestation age and EDD Pregnancy lasts 280 days from LNMP - 9 calendar months, or 10 lunar months 2. Uterine size/Fundal height 3. Quickening 4. Fetal heart sounds 5. Estimation of maturity-ultrasound • Femur length (FL) • abdominal circumference (AC) • BPD • Estimate of fetal weight: • Johnson’s formula: Fwt(g)=(fh(cm)-12)x155 6. Amniotic fluid analysis • Obtained by amniocentesis • Lecithin/sphingomyelin ratio 2:1 - mature • Bubble/shake/foam test, if positive – mature ASSESSING FETAL WELLBEING Tests: 1. Serial oestriol levels 2. Human placental lactogen levels 3. Fetal kick chart 4. Cardiotocographic fetal heart monitoring 5. Non stress testing 6. Stress (contraction) testing 7. Biophysical profile

Biophysical Score (BPS) is based on (ultrasound): 1. Fetal heart rate 2. Breathing movements 3. Limb movements 4. Trunk attitude and movements 5. Amniotic fluid volume • Score: Normal=2, reduced=1, absent=0 • Total maximum 10, minmum: 0 DETECTION FETAL ABNORMALITIES Ultrasound and xray

Prenatal diagnosis of fetal abnormalities • Abnormalities of chromosomes: number eg trisomy 21,18; Turner’s. Structure eg cri du chat • X-linked disorders eg Duchenne muscular dystrophy, factor VIII haemophilia • Neurotubal Defects: eg anencephaly, meningomyelocele


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Biparietal diameter = or >9.5cm = maturity Fetal death: No fetal heart activity, clot in heart chambers, overlapping of skull bones, air in large vessels. Xray Diagnosis of fetal death (done in late pregnancy): Spalding’s sign, Robert’s sign, abnormal curvature or angulation of fetal spine

Serial ultrasound scanning • Maturity by BPD, FL, AC, Fetal wt • Placental location, Molar pregnancy • Multiple gestation • Fetal abnormalities: anencephaly, hydrocephaly • Spina bifida, fetal death, uterine & ovarian tumors • Guidance in therapeutic procedures Genetic screening–indications: • Family h/o affected child • Parental translocation, inversion or aneuploidy • Advanced maternal age => 40 years • Abnormal reproductive outcomes: o Spontaneous abortions, stillbirths, anomalous live born infants o Drug exposure in husband and wife Mendelian and Polygenic disorders • Inborn errors of metabolism eg Tay-sachs disease, cystic fibrosis • Neural Tube Defects: maternal serum AFP (MSAFP), AFAFP , ultrasound • Fetal sex determination for X-linked recessive disorders • Molecular genetic techniques Prenatal diagnosis: Inborn Errors of Metabolism • Lipidoses eg Fabray’s, Gaucher’s, Tay Sachs • Mucopolysaccharidoses eg type I (Hurler), type II (Hunter), Type III (Sanfilippo A) • Aminoacid related disorders eg cystinuria, marple syrup urine disease • Carbohdrate metabolism disorder eg galactosemia Chorionic Villous Sampling and Amniocentesis • Villous sampling for genetic & DNA studies • Genetic disorders eg Down’s • Alpha fetoprotein (AFP) elevated in neural tube defects, abdominal wall anomalies • AFP decreased in Down’s syndrome

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