Perinatology

Conference
Monday, August 12th 2019

Pramana Pananja Putra

 Identity
Name : By. Ny. R.W
MR : 00745896
Age : 9 days
Gender : Male

Diagnosis (Mother): Fetal distress, PPROM 1 month,

Anhidramnion, IUGR, GH, preterm, P2A0 with fetal
multiple congenital anomaly, mother with anemia
grade 1 obesity, history of C-section 7 years ago.
 USG 3/8/2019

Singleton fetus, longitudinal lie, head
presentation, movement (+), FHR(+) amniotic
fluid not sufficient
• BPD 7,99 ~ 32 w 1d
• HC 7,99 cm ~ 30 w 1 d
• AC 25,05 cm ~ 29 w 2 d
• FL 5,58 cm ~29 w 2 d
• EFW 1584 gram
NST 3/8/2019

• FHR Baseline
150bpm
• Variability >5
• Acceleration (-)
• Deceleration(+)
late
deceleration
• His 70mvu
• Conclusion
category 3
3 August 2019
Male baby was born,
BW 1310g, BL 41,
HC/CC 27/24.5, A/S
6/8
 Pedigree

7 years old 9 days old

BW 1310gr
BL 41 cm
HC/CC 27/24.5
cm
Physical examination
• Vital sign : HR 171 bpm, RR 50 kpm, T 36.5 C
• skin : cyanotic(-), anemic (-)
• Head : normocephal, labiognathopalatoschizis
(+), HC 27cm, microphthalmia, low set ear
• Thorax : simetric, S1 S2 regular,
murmur (+). Pulmo: vesicular, crackles
(-/-)
• Abdomen : supel, peristaltik (+), AC 22 cm
• Anus : anal dimple (+)
• Genital : male
• Ekstremitas : club foot
Duboitz score ~31 weeks 6 days
BABY GRAM 4/8/19

Thorax:
- Likely TTN
- Normal heart configuration
Abdomen:
- Dilatation of intestinal system,
suspicious of sepsis
BABY GRAM 9/8/19

Thorax:
- Appearance of bilateral
pneumonia
- Normal heart configuration
- ETT installed in the projected
airways with the distal end as high
as the VTh.4 corpus ± 0.3 cm above
the carina (pull ETT ±1.5 cm)s
Diagnosis:
Neonatal pneumonia, early onset sepsis, acyanotic congenital heart
disease, labiognathopalatoschizis, microphtalmia, bilateral club foot, very
low birth weight, preterm, small for gestational age, C-section o.i. fetal
distress, susp Patau Syndrome

Management:
• Thermoregulation
• O2 CPAP FiO2 30% PEEP 5
• Inj. Ampicillin 70 mg/12haour/iv
• Inj Gentamicin 6 mg/36hour/iv
• Inf Paracetamol 20 mg/8hour/iv
• Fluid requirements 180 cc/kgBB/day
 LABORATORY Mrs RW
Hematologi 3/8/19 Range normal
Leukosit 9.97 4,5-11,50
Eritrosit 3.76 4-5,4
Hemoglobin 9.9 12,0-15,0
Hmt 30.1 35-49
MCV 80.1 80-94
MCH 26.3 26-32
MCHC 32.9 32-36
Trombocyte 307 150-450
SGOT 12 15-37
SGPT 12 12-78
BUN 5.4 7-18
Cr 0.58 0,6-1,00
GDS 95 100-190
Na 135 136-145
K 3.73 3.5-5.1
Cl 109 98-107
HBsAg NR NR
Discussion
 Patau Syndrome
Patau syndrome is caused by trisomy 13 /
increase of one chromosome on a pair of
chromosome No. 13 which occurs due to an
error in the separation of homologous or non-
disjunction chromosomes during the process of
meiosis
 causes of Patau Syndrome
- Idiopathic
- Chromosomal abnormalities
- Non disjunction during meiotic process
 Risk Factors
• People with congenital genetic disorders
• Carrier gene mutations, such as hemophilia sufferers or
their children suffer from thalassemia, albino.
• Having a miscarriage many times which may be the cause
of the unbalanced chromosome arrangement.
• Having a child with a chromosomal abnormality
• Having a child mentally retarded / ignorance without a
known cause.
• Having children of doubtful sex (ambiguous sex).
• Patients with leukemia and malignant tumors.
• Husband and wife who experience infertility.
• Women with primary amenorrhea (never menstruating)
• pregnant women over the age of 35 years.
 Epidemiology
• The incidence of Patau Syndrome occurs at 1:
8,000-12,000 live births.
• Incidence will increase with increasing maternal
age.
• The sex of the fetus can affect the risk of trisomy
13. Men experience aneuploidy more than
women.
• Trisomy 13 is also associated with low birth
weight (LBW), prematurity, and intra uterine
growth retardation
 Sign and Symptoms
• General
Mental retardation, failure to the body with fertility and healthy;
hemangiomas that affect capillaries; increased core projection in
neutrophils, fetal hemoglobin which must persist in a series of apnea
episodes.
• Head to face
Microcephaly; cleft lip and palate, microphthalmia, low set ear
• Thoracic
Congenital heart disease, P.D.A (patent ductus arteriousus).
• Polycystic kidney: bicornuatus uterus; cryptorchidism.
• Hands and feet
Fingernails or hypoplastic fingers.
•Feet
club foot
 Supporting examination
• Ultrasonography (USG)
Ultrasound examination in the trimester (TM) I is done at the age of 11-13
weeks to check the nuchal fold translucency (NT). The results of ultrasound
examination on trisomy 13 can be found to be increased nuchal thickening,
polyhydramnios or oligohydramnios, evidence of IUGR, fetal hydrops,
echogenic intestines, and echogenic cord tendon.

• Maternal Serum Marker Screening

Maternal serum marker screening is a blood test performed on pregnant
women in TM I and / or TM II pregnancies to detect chromosomal
abnormalities: AFP
 Supporting examination
• Amniocentesis
Amniocentesis is the most widely used prenatal diagnostic procedure and
aims to obtain chromosome examination samples. This examination is carried
out to ascertain the presence of chromosomal abnormalities in the fetus that
were found on previous prenatal examinations (USG and serum markers). This
examination is carried out on TM II, around the age of 15-20 weeks.

• Chorionic villous sampling

Corialis biopsy biopsy is done at the end of TM I, between 10-13 weeks which
is done with ultrasound guidance. The tissue taken on this examination is the
chorional tissue of the growing placenta. This procedure has a higher risk of
abortion than amniocentesis, which is 1-2%
 Management
• There is no specific therapy or treatment for
trisomy 13. Most babies who are diagnosed with
trisomy 13 have severe physical problems.
• The therapy is focused on making the baby more
comfortable.
• Children who have survived from birth may need
speech therapy, physical therapy, surgery to
overcome physical problems, and other
developmental therapies
 Prognosis
• The prognosis of babies with trisomy 13 is
very poor and the majority of babies are
stillborn. Some babies can be born
successfully but not live long.
• The average age of babies with trisomi 13 is
2.5 days, only 1 in 20 babies will survive more
than 6 months.
• More than 80% of children with trisomy 13 die
in the first year.
 Propose
Echocardiography
Fetal Karyotyping
Thank you