Dear colleague,
I met little Louise NGUY, born on 07/08/2024, at the maternity ward to discuss the diagnostic hypothesis of Down syndrome.

Family history:
Louise is the 7th child of the couple. She has 3 brothers and 3 sisters, with a notion of language delay in the eldest brother.
Mrs. NGUY is in good health. She does not work and stopped her schooling in high school. She herself has 1 brother and 3 sisters. All have children, and one of her sisters has a little boy with a 22q 11.2 deletion. She does not report any other significant family history.
Mr. NGUY is also in good health. He is a blacksmith. He has 6 brothers and sisters, all in good health, as are their children. His father was epileptic since childhood; he died at 65 from heart failure.
The couple is not related.

History of the pregnancy:
Spontaneous pregnancy. The couple did not wish to undergo screening for Down syndrome.
The nuchal translucency was thick (3.5 mm) at the first trimester ultrasound. An intra-ventricular communication was then identified. The hypothesis of Down syndrome was raised in genetic consultation during the pregnancy. An amniocentesis was proposed to the couple, which they declined.
I see Louise at 2 days of life.

Clinical examination:
Height, weight, and HC are average. Mild axial hypotonia. I find some particular morphological traits, with palpebral fissures upturned and outward, a small mouth, and a bilateral single transverse palmar crease. Reflexes are present and symmetrical. Heart murmur. Pulses are present. No skin abnormalities.
I discuss with the parents that these particularities make the diagnosis of Down syndrome in Louise very likely. Following this consultation, Louise is sampled for a karyotype and FISH of chromosome 21, which should allow us to confirm the diagnosis in a few days. An echocardiogram is already planned, and we will set up the first pediatric follow-up appointments.

In summary:
Clinical diagnosis of Down syndrome, genetic confirmation in progress.
I will see Louise and her family again in consultation to reassess her evolution and follow-up in 1 month.
Fraternally.