ABSTRACT
To assess the clinical impacts of prenatal consultation with a multidisciplinary cleft team on infants with cleft lip with or without cleft palate (CL ± P).Retrospective cases series.Tertiary pediatric hospital.Infants with CL ± P whose mothers received prenatal consultation with a pediatric otolaryngology team from June 2005 to December 2019 were identified. A random sample of infants with CL ± P without prenatal consultation from June 2005 to December 2019 was also identified.The primary outcomes were the length of hospitalization during the first 12 weeks of life, timing of surgical repair, length of postsurgical hospitalization, and number of unplanned clinic visits and phone calls for feeding evaluation.Time to cleft lip repair differed significantly between the 2 groups with repair performed at 13.4 (±0.9) weeks for the prenatal consultation group (n = 73) and 15.3 (±2.1) weeks for the control group (n = 80), (P < .05). If hospitalization was required for feeding difficulties during the first 12 weeks of life, length of stay was 4.9 (± 1.7) days for infants with prenatal consultation and 11.5 (± 7.2) days for control infants (P < .05). Unplanned clinic visits with a speech-language pathologist (SLP) for feeding difficulties were needed for 2.7% of prenatal consultation infants and 11.3% of control infants (P < .05).Prenatal consultation regarding CL ± P resulted in infants with decreased duration of early hospitalizations, earlier cleft lip repair, and decreased engagement with the SLP feeding clinic for feeding difficulties when compared with infants without prenatal consultation.
Subject(s)
Cleft Lip , Cleft Palate , Pregnancy , Female , Infant , Humans , Child , Cleft Palate/surgery , Cleft Lip/surgery , Retrospective Studies , Mothers , Referral and ConsultationABSTRACT
This is the first case of 2q32 microdeletion syndrome diagnosed prenatally and followed throughout the pregnancy. The pregnancy was complicated by fetal club feet, ventriculomegaly, intrauterine growth retardation and polyhydramnios. This is a unique and highly complicated prenatal diagnosis case of a de novo complex chromosomal rearrangement involving chromosomes 2, 5 and 7 with 15 breaks and multiple interstitial 2q deletions, resulting in the 2q32 microdeletion syndrome. The delineation of the karyotype in this case and origin of the pathology required the use of multiple genetic technologies including conventional cytogenetics, fluorescence in situ hybridization, single-nucleotide polymorphism array and array comparative genomic hybridization.
Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 5 , Chromosomes, Human, Pair 7 , Gene Rearrangement , Pregnancy Complications/diagnosis , Prenatal Diagnosis , Chromosome Breakage , Chromosome Breakpoints , Clubfoot/genetics , Comparative Genomic Hybridization , Female , Fetal Growth Retardation/genetics , Humans , Hydrocephalus/genetics , In Situ Hybridization, Fluorescence , Karyotyping , Live Birth , Oligonucleotide Array Sequence Analysis , Polyhydramnios/genetics , Polymorphism, Single Nucleotide , Pregnancy , Pregnancy Complications/genetics , Prenatal Diagnosis/methods , SyndromeABSTRACT
OBJECTIVE: To examine the association between interval from previous ultrasonogram to diagnosis of twin-twin transfusion syndrome and stage at diagnosis. METHODS: We reviewed all monochorionic twins undergoing evaluation for twin-twin transfusion syndrome in our ultrasound department from 2001 to 2008. Cases of twin-twin transfusion syndrome were categorized as early (Quintero stages I and II) or late (Quintero stages III-V). The gestational age at diagnosis and the interval from the last ultrasonogram were recorded. The interval was categorized as 14 days or less or greater than 14 days. Pregnancies diagnosed with twin-twin transfusion syndrome at the initial ultrasonogram were categorized as greater than 14 days. The univariable association between interval from last scan and twin-twin transfusion syndrome stage was determined by χ2. P<.05 was considered significant. RESULTS: One-hundred eight monochorionic twin pregnancies were identified, and 42 met criteria for twin-twin transfusion syndrome: 24 with early stage and 18 with late stage. The median gestational age at diagnosis was 19 6/7 (15 3/7-36 3/7) weeks. Twin-twin transfusion syndrome was more likely to be diagnosed at a later stage with an ultrasound interval greater than 14 days (P=.004). Two cases (11.8%) of late twin-twin transfusion syndrome were diagnosed in pregnancies with an ultrasound interval of 14 days or less. CONCLUSION: An interval of greater than 14 days from previous ultrasonogram was strongly associated with detection of higher-stage twin-twin transfusion syndrome. These data suggest that a maximum surveillance interval of 14 days for monochorionic twins may lead to earlier stage at diagnosis, earlier intervention, and better outcomes. LEVEL OF EVIDENCE: III.
