PRE-NATAL

DIAGNOSTIC
SCREENING,
NEWBORN
SCREENING AND
DETERMINING SEX
PRESENTED BY:
POLINAR, JOICE ANN A. (BSE-ENG.4A)
 Prenatal diagnosis
Procedure undertaken to diagnose genetic
abnormalities and structural anomalies often
early embryo and fetus in order to undertake
timey pre-natal counseling and appropriate
interventions.
 Indication for prenatal diagnosis
■ Advanced maternal age
■ Previous child with chromosome abnormality
■ Woman who are pregnant with multiples (twins or more)
■ Family history of single gene disorder
■ Family history of a neutral tube defect
■ Family history of other congenital structural abnormalities,
etc.
 Invasive Non- invasive
Amniocentesis Ultrasonography
Cordocentesis MRI
CVS Cell-free fetal
Biopsy from fetal DNA
tissue Triple test
Coelocentesis
- Performed in II
trimester Z

- 1 in 300- 500
women miscarry
• Performed in 2nd trimester
• Specialized technique
• Risk same as amniocentesis
• Also called as PUBS
• Done after 18 weeks of
pregnancy
• 2 in 100 women will
miscarry
• Performed in between
17-20 weeks gestation.
• <1 in 1000 women
shows infection.
• Performed before 10 weeks of pregnancy
• Coelomic space between amniotic
membrane and uterine cavity
• Fetal loss=0 or < that of amniocentesis
• Medical imaging technique that uses high frequency sound
waves
• It frequency range of 1-12 megahertz
• Developing embryo can be visualized at about 6 weeks of
gestation
• MRI is combined with ultrasound usually at or
after 18 weeks of gestation.
• MRI is a risk- free method.
• cffDNA is fetal DNA circulating freely in maternal
blood stream
• It is sampled by venepuncture on the mother
• ccfDNA can first be observed as early as 7 weeks
gestation, and the amount of ccfDNA increases as the
pregnancy progresses.
• Also called as double test or quadruple test
• Triple test measure:
- alpha- fetoprotein (AFP)
- human chorionic gonadotropin (HCG)
- unconjugated estriol (UE3)
A simple procedure to find out if
your baby has a congenital
metabolic disorder that may lead to
mental retardation or even death if
left untreated.
• Most babies with metabolic disorders
look “normal” at birth.
• By doing NBS, metabolic disorders
may be detected even before clinical
signs and symptoms are present.
• Treatment can be given to prevent
consequences of untreated conditions.
• NBS is usually done on the 48th –
72nd hour of life

• It may also be done 24 hours from

birth

• Some disorders are not detected of

the test is done earlier than 24 hours.
“HEEL PRICK
METHOD”
• Using the heel prick method, a few
drops of blood are taken form the
baby’s heel and blotted on a special
absorbent filter card.

• The blood is dried for 4 hours and sent

to Newborn Screening Center (NSC).
DETERMINING
SEX
 Sex determination
■ A baby’s sex is determined at the time of
conception
■ A fetus doesn't develop its external sexual
organs until the second month of pregnancy—
seven weeks after conception.
 Reproductive system
■ By 7 weeks, a fetus has a genital tubercle, urogenital
groove and sinus, and labioscrotal folds. In females,
without excess androgens, these become the clitoris,
urethra and vagina, and labia.
■ In both males and females, the sex organs consist of
three structures: the gonads, the internal genitalia,
and the external genitalia. In males, the gonads are
the testes and in females they are the ovaries.
■ The internal genitalia consist of two
accessory ducts: mesonephric ducts
(male) and paramesonephric ducts
(female).