Question

​​​​​Case Study (60): This is the case of Kimmy, a newborn female from Tondo, Manila, who was seen last January 2020 because of physical deformities. Kimmy was born to a 35-year-old G3P3 (3003) mother who had prenatal check-up (PNCU) at the local health center for the first 5 months of pregnancy before moving to a government hospital for her PNCU for the rest of her pregnancy. She had cough and colds during the second trimester and a recurrent urinary tract infection during the third trimester of pregnancy. An ultrasound done during the 5th month revealed polyhydramnios. Her mother also experienced preterm labor at 7 months and was subsequently admitted at the hospital for observation. She was released eventually. The mother denies any family history of diseases and malformations. Kimmy was delivered full term via normal spontaneous delivery and assisted by an obstetrician. The four core steps of Unang Yakap were observed. At birth, she had good cry and good activity with an APGAR score of 8 and 9. Upon physical examination, the following were noted: frontal bossing, low set ears, micrognathia, overlapping of the fingers, ambiguous genitalia, and rocker-bottom feet. The rest of the physical examination was normal. Kimmy was eventually discharged and was advised to undergo laboratory tests including karyotyping. Upon follow-up at the out-patient department, complete blood count showed normal levels. Kimmy’s mother showed the following result to the doctor:

1. What is your diagnosis and what are the salient features of the case that made you arrive at such diagnosis?
2. What are the different clinical manifestations of the diagnosis?
3. Are there laboratory procedures that can be done to detect genetic disorders intrauterine? If yes, please enumerate and explain these procedures.
4. How is this genetic disorder different from the other genetic disorders?
5. What is the prognosis of Kimmy?

Answer 1

a. Diagnosis for this condition is trisomy 18 or Edward syndrome.

The salient features of the case that made at this diagnosis are 1. Micrognathia 2.Overlapping of fingers 3.Rocker-bottom feet and 4.Low set ears.

b.Clinical manifestations of Trisomy 18 are

• 1. Microcephaly.
• 2.Prominent occiput.
• 3.Low-set ears.
• 4. Micrognathia.
• 5.Cleft lip/palate.
• 6. Upturned nose,
• 7.Narrow palpebral fissures.
• 8 Hypertelorism
• 9 Short sternum
• 10.Ptosis
• 11.Rocker-bottom feet

c. There are laboratory procedures to detect genetic disorders intrauterine. They are

• Amniocentesis.
• Maternal serum alpha-fetal protein analysis or screening.
• Chorionic villus sampling.
• Ultrasonography.

d.This genetic order differs from others is affects only females and poor prognosis.

e.The majority of children who are born with Trisomy n18 do not live past their first year of life. approximately 90-95% of these children die prior to their first birthday. 5-10%  cent of children who do survive their first-year experience severe developmental disabilities. The details of her laboratory result and other investigations are incomplete so a proper prognosis for Kimmy is impossible.