Pregnancy diagnosis, Prenatal care & Genetic counseling -----From textbook to application Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai jw52317@hotmail.com

Overview Key points Case discussion

Pregnancy diagnosis

Pregnancy diagnosis Amenorrhea Other symptoms Pregnancy tests Fetal heart tones Fetal movements Ultrasound Estimated date of confinement Add 7 days to the 1st day of the LMP subtract 3 months. Textbook

Pregnancy diagnosis History LMP Basic information EDC Age Gravidity Parity Abortuses LMP EDC GXPY, or T-P-A-L Example: 3-0-2-1, 1-0-0-2 ???

Case 1 A 28-year-old women, whose LMP was Aug 10, 2012, was refer to our out-patient department. Her menses is 14 5-6/30d. Clinical thinking What is the most likely diagnosis? What should be your next steps? How would you confirm the diagnosis?

History married 0-0-0-0 Menstrual: regular, 5-6/30 d

Lab test Urine HCG: + Ultrasound

Prenatal care

Prenatal care Purpose Ensure an uncomplicated pregnancy for mother and baby Identify and treat high risk pregnancy early

Prenatal care When and what? In our hospital: 11-14W: NT (nuchal translucency) 14-20W: serum screening for genetic disease 18-22W: ultrasound screening for fetal anomaly 14-20W: amniocentesis 22-26W: Screening for GDM 30-34W: Fetal growth measurements From 35W: NS

Loepold’s maneuver Fetal electronic monitoring

Loepold’s maneuver First maneuver: Perform the first loepold’s maneuver to identify the fetal lie, which maybe longitudinal or transverse and fetal presentation, which may be cephalic or vertex or maybe breech. To do this,lightly palpate the woman’s upper abdomen to identify the fetal part in the fundus. A

Prenatal care Loepold’s maneuver First maneuver: If the part is relatively soft and irregular, you’re palpating the buttocks, if the part feels round and firm, freely moveable, you’re palpating the fetal head. If you feel head or buttocks in the fundus, the lie is longitudinal. Otherwise, the lie is transverse. A Prenatal care

Prenatal care Loepold’s maneuver Second maneuver: Next, perform the second maneuver to further identify the fetal presentation. Using the palm of one hand, locate the fetal back by the smooth back convex contour. With the opposite palm, feel for the irregularities that are the feet, hands, and other small parts. B Prenatal care

Prenatal care Loepold’s maneuver Third maneuver: Carry out the third maneuver to determine the presenting part, which is the part of the fetals over the pelvic inlet. With the nurse dominant hand, gently grasp the lower pole of the uterus between the nurse’s thumb and fingers, and press in slightly. C Prenatal care

Prenatal care Loepold’s maneuver Fourth maneuver: Face the woman’s feet, to perform the fourth maneuver to assess the descent of the presenting part. With the palmar surface of your fingertips, outline the presenting part, which is usually the fetal head. If the presenting part has descended deeply, you may be able to outline only a small portion of it. D Prenatal care

Fetal hypoxia

Genetic counseling

CAUSES OF CONGENITAL MALFORMATIONS 50% of malformations 15% of malformations (7%) of malformations (8%) of malformations 10% of malformations 25% of malformations 0.5-1% Unknown causes Genetic factors: Chromosomal aberrations Gene mutations 3. Environmental factors 4. Multifactorial factors 5. Twinning 21

Who does it? Masters-level genetic counselors MD geneticists Genetic nurse clinicians other genetic sub-specialists (PhD geneticists, etc.)

Methods? Untrasound Serum screening Amniocentesis Chorionic villus sampling, CVS

Down Syndrome (trisomy 21)

Umbilical hernia

ex utero intrapartum treatment, EXIT

Intrauterine transfusion

Case 2 Ms. zhang is a 28 year old woman. She is 17 weeks pregnant and this is her first pregnancy. She has a routine blood test at her OB’s office. She is told that it screens for Down syndrome and some other conditions. A week after the test ,she receives a call from the nurse saying she came back “screen positive” for trisomy 18. The nurse tells her the chance her baby has trisomy 18 is 1 in 100. She is referred to a genetic counselor. What is the next step?

Roles Review results of screening test Obtain pregnancy and family history Explain the cause and features of trisomy 18 Discuss further testing options Facilitate decision making Follow-up with further testing results Use counseling skills to help patient cope with test results

Thank you