Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Abstract

We describe the antenatal and intrapartum care of a 21-year-old nulliparous patient with a known prominent Chiari network.At 19 years of age, this patient was referred to cardiologists with symptoms of inappropriate tachycardia in response to exercise and intermittent nocturnal breathlessness. ECHO revealed a large mobile fi lamentous structure in the right atrium, prolapsing through the tricuspid valve. A diagnosis of a prominent Chiari network was made. Aft er a normal exercise stress test, she was discharged from the clinic. No further investigations or follow-up were arranged. Th e patient booked with the maternity department at 11 weeks ' gestation. All baseline observations and investigations were normal. Fetal anomaly scan showed no abnormalities and growth was on the 50th centile. However, given the patient ' s diagnosis of Chiari network, consultant-led care was preferred.A cardiology opinion was sought. No concerns were raised by the department and no special recommendations for pregnancy or delivery were made.Th e pregnancy progressed well. Th e patient presented in spontaneous labour at term and laboured to full dilatation, but aft er failure to deliver following 1 hour of pushing, assisted delivery was required. A live female infant was delivered with Ventouse. Apgars were 9 and 10; weight 3,760 g. Observations remained stable throughout delivery.Th e woman made an uneventful postpartum recovery, and was discharged home the next day with her baby.

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

“…Vertebral anomalies such as cervical kyphosis and thoracic scoliosis are commonly reported prenatally in PS . We detected fusion of the cervical vertebral bodies prenatally in one of our cases but not in another (Table ).…”

“…16 It has been described in a variety of syndromes such as Rubinstein-Taybi 17 or Desbuquois Vertebral anomalies such as cervical kyphosis and thoracic scoliosis are commonly reported prenatally in PS. 13,20 We detected fusion of the cervical vertebral bodies prenatally in one of our cases but not in another (Table 1). This confirms the finding of others that, whilst fusion of vertebrae is a classical feature of PS on postnatal or postmortem examinations, it is difficult to be depicted on prenatal US.…”

<p>Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report</p>

“…Three-dimensional obstetric ultrasound is the first-line diagnostic tool for suspected PS, being useful to verify suture closure in the third trimester of pregnancy for the most severe cases 14 although the diagnosis with lower gestational ages has been reported. 15 Adding to craniosynostosis, principal ultrasound prenatal findings suggestive to PS are thumbs deformations and big toes. 7 Even when the cloverleaf skull is the most common finding in PS, and in our patient, it was the most important finding to perform PS diagnosis, the absence of this characteristic does not exclude the diagnosis, as well as its presence does not directly certify this syndrome, because other diseases can also present.…”

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

“…To our knowledge, more than 30 prenatally diagnosed PS have been reported, 6‐8 all were diagnosed at or beyond 20 weeks of gestation. Although cloverleaf skull was one of the most common characteristic noted in fetal period, 7 the typical cloverleaf skull might unlikely be detectable prior to 20 weeks 7,9,10 . Gomez‐Gomez revealed strawberry‐shaped cranium, hypertolerism, a supernumerary bone at frontal level, small thorax, kyphosis and dorsal level scoliosis, and suspicious bladder exstrophy at 20 weeks of gestation as clues for the diagnosis 9 .…”

“…Although cloverleaf skull was one of the most common characteristic noted in fetal period, 7 the typical cloverleaf skull might unlikely be detectable prior to 20 weeks 7,9,10 . Gomez‐Gomez revealed strawberry‐shaped cranium, hypertolerism, a supernumerary bone at frontal level, small thorax, kyphosis and dorsal level scoliosis, and suspicious bladder exstrophy at 20 weeks of gestation as clues for the diagnosis 9 . Nazzaro detected bilateral temporal indentation and hypertelorism at 20 weeks 10 .…”