P02.01: Recurrence risk estimation after pregnancy termination based on sonographic detection of serious CNS anomalies

Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of recurrence risk. This is particularly true for families with a positive history for recessive LGMD, in which the presence of a known pathogenetic mutation segregating within the family may not be enough to exclude the risk of having affected children without exploring the genetic background of phenotypically unaffected partners. In this work, we presented a family with a positive history for LGMD2A (OMIM #253600, also known as calpainopathy) characterized by compound heterozygosity for two CAPN3 mutations. The genetic specialist suggested the segregation analysis of both mutations within the family as a first-level analysis. Sequentially, next-generation sequencing (NGS) analysis was performed in the partners of healthy carriers to provide an accurate recurrence/reproductive risk estimation considering the genetic background of the couple. Finally, this work highlighted the importance of providing a genetic counseling/testing service even in unaffected individuals with a carrier partner. This approach can support genetic counselors in estimating the reproductive/recurrence risk and eventually, suggesting prenatal testing, early diagnosis or other medical surveillance strategies.

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MP11-04 METASTATIC RECURRENCE RISK ESTIMATION AFTER RADICAL PROSTATECTOMY: MODEL PERFORMANCE INTEGRATING PREOPERATIVE MRI FINDINGS AND TARGETED BIOPSY.

The Journal of Urology ◽

10.1097/ju.0000000000001984.04 ◽

2021 ◽

Vol 206 (Supplement 3) ◽

Author(s):

Thomas Bommelaere ◽

Arnauld Villers ◽

Philippe Puech ◽

Julien Labreuche ◽

Xavier Leroy ◽

...

Keyword(s):

Radical Prostatectomy ◽

Risk Estimation ◽

Model Performance ◽

Recurrence Risk ◽

Targeted Biopsy ◽

Mri Findings ◽

Metastatic Recurrence

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Distribution of multiple congenital abnormalities including anotia and microtia

Orvosi Hetilap ◽

10.1556/oh.2011.29134 ◽

2011 ◽

Vol 152 (35) ◽

pp. 1399-1416

Author(s):

László Paput ◽

Judit Falvai ◽

Ferenc Bánhidy

Keyword(s):

Congenital Abnormalities ◽

Risk Estimation ◽

Large Population ◽

Recurrence Risk ◽

Population Based ◽

Case Control ◽

Characteristic Pattern ◽

International Registry ◽

Hungarian Case ◽

Multiple Congenital Abnormalities

To evaluate cases with unclassified multiple congenital abnormalities including microtia and anotia as component congenital abnormalities in order to reveal the characteristic pattern of other associated component congenital abnormalities and to make an attempt to establish a registry diagnosis on the pattern of associated congenital abnormalities and to stimulate the establishment of an international registry of cases with unclassified multiple congenital abnormalities comprising of microtia and anotia. Methods: The large population-based dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980–1996. Results: A total of 156 cases with unclassified multiple congenital abnormalities including microtia and anotia were analyzed according to the number of 2–9 component congenital abnormalities. The comparison of the distribution and frequency of component congenital abnormalities in these cases showed significant differences from the data of other unclassified multiple congenital abnormalities. Of the 156 cases, registry diagnosis was possible in 48 (30.8%) cases. Conclusions: The evaluation of available dataset of unclassified multiple anotia and microtia may help the delineation of new syndromes and associations with better prognosis and recurrence risk estimation, thus finally a better chance for their prevention. Orv. Hetil., 2011, 152, 1399–1416.

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An encounter with alobar holoprosencephaly: a case report

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20202761 ◽

2020 ◽

Vol 9 (7) ◽

pp. 3069

Author(s):

Prasanna Venugopalan ◽

Fathima Mithilag ◽

Vidhu V. Nair

Keyword(s):

Pregnancy Termination ◽

Recurrence Risk ◽

Neurological Impairment ◽

Cerebral Hemispheres ◽

Facial Dysmorphism ◽

Obstetric Ultrasound ◽

Key Features ◽

Diagnostic Modalities ◽

Ocular Hypertelorism ◽

Foetal Mri

Alobar holopresencephaly is a rare embryonic condition where there is anomalous fusion of cerebral hemispheres. The key features include neurological impairment and facial dysmorphism like cyclopia, ocular hypertelorism with divided orbits and a proboscis. Obstetric ultrasound and foetal MRI are the diagnostic modalities. Majority of cases are sporadic in origin while a genetic association is also described. A small recurrence risk is noted in cases with sporadic origin. Early diagnosis and pregnancy termination are advisable for the condition since the survival rate is very low.

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