Department of Medical Genetic and Fetal Medicine. University Hospital, Olomouc, Czech Republic

Case report #1:

A 28-year-old gravida 1, was referred to our center at 24 weeks and 2 days for confirmation of the diagnosis of cystic adenoma in the right lung discovered on routine ultrasound evaluation. A targeted ultrasound revealed a large, multicystic mass of mixed micro and macro cysts apparently occupying the right side of the thorax with hypoplastic left lung. The heart was shifted to the left side of the thorax otherwise was normal.

The remaining anatomy was normal.

Termination of the pregnancy was indicated and the post mortem section confirmed the diagnosis of male fetus of 780g with cystic dysplastic of the right segment of the lung and hypoplasia of the left one. Histological evaluation of the pulmonary mass was consistent with congenital cystic adenomatoid malformation, Type I (macro-cystic).

Case report #2:

A 28-year-old gravid 1 of spontaneous pregnancy was referred to our center at 20 weeks for a routine  scan. The first trimester screening detected a low risk for Down syndrome  (1: 18178) . The couple has a history of infertility (decreased sperm motility) and several failed IVF. In the family history,  the sister of the patient had history of cystic fibrosis so the couple decided to underwent karyotyping and delta F508 cystic fibrosis investigation with normal results.

A targeted ultrasound revealed a multi-macrocystic mass occupying the right lung on the right side of the thorax and a hypoplastic left lung. The heart was shifted to the left side of the thorax but was otherwise structurally normal. The diagnosis of congenital cystic adenomatoid malformation type 1 was suggested.

The remaining anatomy was normal. Termination of the pregnancy was indicated and the post mortem section have confirmed the diagnosis of a male fetus of 780g with congenital cystic adenomatoid, Type 1 (macro cystic). Multiple cysts with different size was noted in  the upper right pulmonary segment. The middle and lower segment of the right lung were hypoplastic and enlarged, pushing  the heart to the left side. The left lung was mildly hypoplastic left kidney. Confirmation of diagnosis of  Congenital cystic adenomatoid malformation type 1 was made.