05/02/2026
This is a story about continuing a pregnancy in the presence of fetal anomalies.
Stacey and Kelvin were expecting their first baby. They declined NIPT, as an abnormal result would not result in further invasive testing as they would not terminate an affected pregnancy. Her 13/40 structural ultrasound was normal, but at her 20/40 ultrasound, along with finding out they were having a girl, a number of anomalies were suspected. Primarily, the baby had a large mass filling the right side of her chest (in place of normal lung tissue). This was thought to represent a CPAM (congenital pulmonary airway malformation, also known as CCAM). At this stage, there was also concern about the positioning of her heart vessels. With the combination of anomalies, chromosomal abnormalities are always considered. The only way to be certain about such a diagnosis would be by invasive testing (at this gestation, an amniocentesis – a needle into the uterus to take a sample of amniotic fluid from around the baby). This carries with it an approximately 1:1000 risk of miscarriage. They did not want to take this risk, as they would continue with the pregnancy even in the presence of a chromosomal condition. Stacey and Kelvin were terrified and very sad. They frequently cried together and prayed for a miracle every day.
I referred her to the Fetal Diagnostic Unit . They confirmed the lung mass but felt that the cardiac vessel concerns were more related to the large lung mass. However, at 25/40, there were signs of fetal hydrops (fluid around the baby’s heart). This is a very concerning feature with a high risk of fetal demise. She had steroids to try to treat this. At this stage, another concern was around how much actual lung tissue the baby had. To help determine this, an MRI was arranged. Remarkably, by 27/40, the hydrops had resolved! The MRI showed that there may have been a high obstruction of the airway (22% functional lung volume was estimated), and that this may represent bronchial atresia rather than CPAM. This was frightening, as the lack of functional lung tissue indicated a high likelihood of not being able to survive ex utero.
At 29/40, the mass remained stable. There was significant midline shift (the heart was being pushed to the side by the lung mass). Fortunately, the rest of her pregnancy remained largely uncomplicated. At 31+2/40, as expected the mass was still there, but not growing. However, at 32+2, just one week later, the mass had disappeared altogether! This was very puzzling for all involved, and it was thought that perhaps a plug of mucus may have been released at this point, allowing lung tissue to expand into the chest cavity. Subsequent scans confirmed that the mass had disappeared. The heart had also returned to its normal position! The baby’s growth slowed down and blood flows started to change, indicating that she was not receiving adequate blood supply. Regular monitoring of the baby commenced. We decided to perform an elective caesarean and at 38+1/40, baby Gabriella was born safely weighing 2550g, and breathing on her own!
Postnatally she was diagnosed with right upper lobe bronchial atresia and tracheobronchial malacia. She had postnatal genetic testing which was all normal. She spent 8 weeks in the NICU & SCN and finally got to go home with Stacey and Kelvin without any breathing support. Microarray genetic testing was normal, but extensive exome testing is still pending.
Gabriella is thriving. She sleeps well, feeds well, is very smiley and alert and makes great eye contact, though she is on the slower side for gross motor development. She has been ticking off milestones like rolling, sitting, head/neck control, grasping.
Naturally, Stacey and Kelvin have some worries on what the diagnoses mean for her future, but they have hope and believe that she's going to grow up just fine! They feel blessed and delighted to have her here with them. It's been a joy to be her parents despite all the medical issues.
Stacey and Kelvin would not have it any other way. Their baby girl is the light of their life and, while challenges exist, they have been solving them together.
I am so glad that Gabriella came to you, Stacey and Kelvin. It is wonderful to see how much love you have for her and each other. Congratulations on the safe arrival of baby Gabriella!
