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
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– Basic information
– 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
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
Loepold’s maneuver
Fetal electronic monitoring
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
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
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
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
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
Fetal hypoxia
Genetic counseling
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
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)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 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?
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
Thank you
