Dr Varsha V S, Dr Jayasree C, Dr Lakshmi S Nair, Dr Perraju Bendapudi, Dr Ashwin S Prabhu, Dr Smrithi Madhava Menon. (AimsNeo)
DrC Jayakumar AIMS Kochi.
Late PreTerm/Symmetrical SGA/Female ba born to a 25 years old primi mother.
Mother have no medical illness.
Antenatal scans normal.
Emergency LSCS was done due to oligohydramnios. Ba cried immediately after birth
Ba was shifted to NICU as ba had respiratory distress after birth
On examination: Cleft lip, cleft palate, with post axial polydactyly(ulnar side( and retrognathia.
Auxology: Weight: 2kg(<10th centile), HC: 31cm(<10th centile), Length: 40cm
Oral pooling of secretions were noted
Vitals: PR: 148/min, RR: 66/min, SpO2: 88% RA, BP: 66/48mmhg.
Systemic examination done was normal.
During the NICU stay ba had intermittent apnea episodes managed with oral caffene citrate
Sepsis screening and sugars were normal. Differentials considered were:
1. Patau Syndrome
2. Van der woude’s Syndrome
3. Pierre Robin Syndrome
4. Oro facial digital Syndrome
Investigations:
CBC: TC: 8.01K/uL/ N/L: 48.5%/ 24.7%, Hb: 17.1g/dl, Platelet count: 3.04Lac.
CRP: .1.1mg/L, RFT/ TFT/ LFT/ Serum electrolytes: normal.
Blood C/S: Sterile.
Genetics consultation was availed and advised to send FISH.
FISH was sent and showed presence of an extra copy of chromosome 13 (Trisomy 13) in all cells analysed, suggesting Patau syndrome.
Newborn basic metabolic screening was sent which was normal.
USG abdomen, Neurosonogram, Echo were normal.
ENT consultation was availed and advised Video fluoroscopic swallow study but could not be done as ba was irritable..
Ba was gradually weaned off supports. NG feeding was initiated. Craniomaxillofacial surgeon consultation was availed and started on conservative management. Mother was taught supportive care and emergency management. Ba was discharged with stable vitals and planned to follow up.
Discussion:
Trisomy 13 (Patau syndrome )is a chromosomal aneuploidy characterized meiotic nondisjunction associated with midline fusion defect.
Incidence: 1 in 10,000 to 20,000 live births with antenatal mortality of over 95% of gestations.
Mechanism: Trisomy 13 arises from the nondisjunction of germ cells during meiosis I or II of either parental cells. It can occur as complete, partial, or mosaic expression. The complete trisomy is the most common presentation representing about 80% of all patients. The partial expression is characterized a Robertsonian translocation t(13;14), while only 5% of all cases present with mosaicism. The embryological defects in trisomy 13 develop in the absence of fusion of prechordal mesoderm, which phenotypically presents as midline defects.
Clinical features: Cleft lip-palate, postaxial polydactyly, congenital heart disease, polycystic kidney disease, urogenital anomalies, and gynecological dysgenesis, holoprosencephaly, Dandy-Walker malformation, aplasia cutis.
Evaluation: Antenatal: At 11-14 weeks: fetal nuchal translucency (FNT) which typically appears greater or equal to 3.5mm and a decrease in biomarkers like free beta subunit or total human chorionic gonadotropin (B-hCG) (c/f Trisomy 21 where Beta HCG is increased)and pregnancy-associated plasma protein-A (PAPP-A)
Non-invasive prenatal testing (NIPT ) with cell-free DNA in maternal plasma to differentiate trisomy 18 and 21 from 13 also can be used.
Chorionic villus sampling (CVS) can be performed in an early window between gestational weeks 11 and 13, while amniocentesis is generally performed in weeks 15 to 18.
A definite diagnosis is only achievable from a postnatal karyotype and fluorescence in situ hybridization (FISH) techniques.
Management: Trisomy 13 with multiple organ dysfunctions are usually incompatible with life. So the current approach focuses on creating a communicative relationship between the parents and physicians informing them about the quality of life and the treatment options specific to their child’s abnormalities.
Complication: Central apnea, structural cardiac incompatibilities, pulmonary hypertension, aspiration, and upper respiratory tract obstructions.
Prognosis: Postnatal mortality is approximately 50% during the first month and up to 90% during the first year.