pregnancy diagnosis, prenatal care & genetic counseling wei jiang, m.d. attending of ob &...

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Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai [email protected] -----From textbook to application

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Page 1: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Pregnancy diagnosis, Prenatal care & Genetic counseling

Wei Jiang, M.D.

Attending of Ob & GynOb & Gyn Hospital, Fudan University419 Fangxie Road, [email protected]

-----From textbook to application

Page 2: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Overview

Key points

Case discussion

Page 3: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Pregnancy diagnosis

Page 4: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

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

Page 5: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Pregnancy diagnosis

• History– Basic information

– Age– Gravidity – Parity– Abortuses

• LMP – EDC

GXPY, or T-P-A-L

Example: 3-0-2-1,

1-0-0-2 ???

Page 6: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

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?

Page 7: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

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

Page 8: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Lab test– Urine HCG: +– Ultrasound

Page 9: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai
Page 10: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Prenatal care

Page 11: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Prenatal care

• Purpose– Ensure an uncomplicated

pregnancy for mother and baby– Identify and treat high risk

pregnancy early

Page 12: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

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

Prenatal care

Page 13: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuver

Fetal electronic monitoring

Page 14: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuverLoepold’s maneuver

First maneuverFirst 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

Page 15: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuverLoepold’s maneuver

First maneuverFirst 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.

Prenatal Prenatal carecare

A

Page 16: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuverLoepold’s maneuver

Second maneuverSecond 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.

Prenatal Prenatal carecare

B

Page 17: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuverLoepold’s maneuver

Third 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.

Prenatal Prenatal carecare

C

Page 18: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Loepold’s maneuverLoepold’s maneuver

Fourth maneuver:Fourth maneuver: Face the woman’s feet, to perform the fourth maneuver to assess the descent of the presenting part. Wit

h 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. Prenatal Prenatal

carecare

D

Page 19: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Fetal hypoxia

Page 20: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Genetic counseling

Page 21: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

CAUSES OF CONGENITAL MALFORMATIONSCAUSES OF CONGENITAL MALFORMATIONS

1. Unknown causes 2. Genetic factors: Chromosomal aberrations Gene mutations3. Environmental factors4. Multifactorial factors5. Twinning

50% of malformations15% of malformations (7%) of malformations

(8%) of malformations10% of malformations 25% of malformations 0.5-1%

21

Page 22: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Who does it?

• Masters-level genetic counselors

• MD geneticists

• Genetic nurse clinicians

• other genetic sub-specialists (PhD geneticists, etc.)

Page 23: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Methods?

• Untrasound

• Serum screening

• Amniocentesis

• Chorionic villus sampling, CVS

Page 24: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Down Syndrome (trisomy 21)Down Syndrome (trisomy 21)

Page 25: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Umbilical hernia

Page 26: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

ex utero intrapartum treatment, EXIT

Page 27: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Intrauterine transfusion

Page 28: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Case 2 Ms. zhang is a 28 year old woman. She is 1

7 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?

Page 29: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

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 t

est results

Page 30: Pregnancy diagnosis, Prenatal care & Genetic counseling Wei Jiang, M.D. Attending of Ob & Gyn Ob & Gyn Hospital, Fudan University 419 Fangxie Road, Shanghai

Thank you