Multidisciplinary Approach in the Diagnosis and Treatment of Twin Anemia Polycythemia Sequence in Monochorionic Twin Pregnancies: Case Report.

Twin anemia-polycythemia sequence (TAPS) in monochorionic twin pregnancies is a potentially serious complication caused by unidirectional vascular anastomoses in the placenta, resulting in one anemic donor twin and one polycythemic recipient twin. Diagnosis of this condition is achieved through Doppler ultrasound assessment of the difference between the MoM of the peak systolic velocity of the middle cerebral artery between the twins, establishing the diagnosis with a delta value >0.5 MoM. Management of this situation is individualized and may include intrauterine transfusions, intrauterine laser treatment, and expectant management through ultrasound monitoring of both fetuses to prevent complications. In severe cases, pregnancy termination may be necessary. It is essential that these pregnancies are managed by a multidisciplinary team of professionals, including obstetricians specialized in fetal medicine and neonatologists, to ensure the best possible outcome for both the mother and the fetuses. Early detection and treatment are crucial in the management of pregnancies complicated by twin anemia-polycythemia sequence. The main objective of this article is to conduct a review of the existing literature on the anemia-polycythemia sequence in monochorionic pregnancies, emphasizing the exceptional nature of the presented case due to its spontaneous occurrence, which has a very low prevalence compared to post-laser TAPS cases. It also discusses the different treatment options, highlighting the importance of expectant management and individualization in each case.

Prenatal Diagnosis of Neu-Laxova Syndrome.

Neu-Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu-Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu-Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.

Neurological complications after therapy for fetal-fetal transfusion syndrome: a systematic review of the outcomes at 24 months.

OBJECTIVE: The main objective of this study was to review the available scientific evidence about mid-term neurological outcomes in twins after laser therapy for twin-to-twin transfusion syndrome (TTTS). METHODS: A systematic review of studies on neurodevelopmental outcomes (cognition, motor development, communication skills and cerebral palsy) of twins after laser therapy for TTTS was conducted. Outcomes at 24 months of age and the use of validated scales for assessment were the selected criteria. Electronic and manual research identified 25 studies, and nine of them were eligible for the review. RESULTS: The global mean rate of neurological injury in twins treated with laser was 14.07%. The mean rate of cognitive impairment was 8.41%, 11.14% for motor delay, 16.5% for communication delay and 5.73% for cerebral palsy. These rates were higher than the results found in dichorionic twins, but lower than the results found in twins treated with amnio-reductions or conservative management. CONCLUSION: Laser therapy is associated with a lower rate of neurological injury at 24 months of age compared to other therapeutic techniques. This tendency was also observed with specific incidences regarding cognition, motor skills and cerebral palsy.