1. 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

2. Overview
Key points
Case discussion

3. Pregnancy diagnosis

4. 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

5. Pregnancy diagnosis History LMP Basic information EDC Age Gravidity
Parity
Abortuses
LMP
EDC
GXPY, or T-P-A-L
Example: ,
???

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

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

8. Lab test
Urine HCG: +
Ultrasound

10. Prenatal care

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

12. 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

13. Loepold’s maneuver
Fetal electronic monitoring

14. 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

15. 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

16. 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

17. 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

18. 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

19. Fetal hypoxia

20. Genetic counseling

21. 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

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

23. Methods? Untrasound Serum screening Amniocentesis
Chorionic villus sampling, CVS

24. Down Syndrome (trisomy 21)

25. Umbilical hernia

26. ex utero intrapartum treatment, EXIT

27. Intrauterine transfusion

28. 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?

29. 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

30. Thank you