Case of the Week # 48

Juan Carlos Quintero Mejia MD and Philippe Jeanty, MD, PhD

Cali, Colombia and Nashville TN

This fetus was scanned at 18 weeks and 1 day menstrual age. All the biometry was consistent with 17 weeks days. The patient had no rupture of the membranes.

Biparietal diameter 36.5 mm 16w +2d
Head perimeter 139 17w+ 1d
Femur 24 17w+ 2d
Humerus 22.4 16w+ 6d
Abdomen perimeter 125.5

The following images were obtained:

images6
images7
images8
image23
images
image11a

Normal heart

image73
image57

The abdomen, stomach ands kidneys

image11
image51

image45
image62
image7
image6a
image44a
image67

The limbs

image21

The spine

image3

Placenta and cervix

images3
image25

In view of the findings the patient was counseled, but she declined to not have a karyotype performed. The fetus spontaneously died at 35 weeks.

What is the finding and the anomaly that are represented by the findings ?

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Answer

This fetus was scanned at 18 weeks and 1 day menstrual age. All the biometry was consistent with 17 weeks days. The patient had no rupture of the membranes.

Biparietal diameter 36.5 mm 16w +2d
Head perimeter 139 17w+ 1d
Femur 24 17w+ 2d
Humerus 22.4 16w+ 6d
Abdomen perimeter 125.5

The following images were obtained and all appear fairly unremarkable aside from the growth retardation, the placentomegaly and the severe oligohydramnios.

images6
images7
images8
image23
images
image11a

Normal heart

image73
image57

The abdomen, stomach ands kidneys

image11
image51
image45
image62
image7
image6a
image44a
image67

The limbs

image21

The spine

image3

Placenta and cervix

images3
image25

The findings were: 

  • mild growth retardation, 
  • placentomegaly and 
  • severe oligohydramnios.

The kidneys were visible and aside from a small amount of pyelectasis were unremarkable (no cysts in particular). In particular the renal arteries were present. The bladder was also seen, and was not distended, which excluded some of the cystic renal disorders and the bladder outlet obstructions. Thus the oligohydramnios was not related to a renal problem. Since there was no history of TORCH infection, an aneuploidy was likely and since the fetus was fairly unremarkable, it was suggested that the source of this fetus problem was an aneuploidy or mosaicism of the placenta, and in particular trisomy 16. 

In view of the findings the patient was counseled, but she declined to not have a karyotype performed. The fetus spontaneously died at 35 weeks. The autopsy confirmed the diagnosis of Trisomy 16 limited to the placenta

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