Dilemmas in Antenatal Reporting of Ambiguous Genitalia on Ultrasound, under Preconception and Prenatal Diagnostic Techniques Act, 1994

Ethical dilemmas,Radiology,Ultrasonography

Dear Editor,

Author has written this letter to express her concern regarding the recent developments in the implementation of the Preconception and Prenatal Diagnostic Techniques (PCPNDT) Act. As a healthcare professional specialising in radiology, author have witnessed firsthand the challenges and ethical dilemmas that arise from its enforcement, particularly in cases involving ambiguous genitalia detected during ultrasound examinations.

The PCPNDT Act, aimed at preventing sex-selective abortions, is undoubtedly crucial in addressing the skewed sex ratio in our country [1]. However, its rigid implementation sometimes leads to unintended consequences, especially in cases where ambiguous genitalia are detected prenatally. These cases require careful consideration and multidisciplinary evaluation involving paediatric endocrinologists, geneticists, and neonatologists to ensure appropriate counselling and management.

Author have encountered situations where families, upon receiving a diagnosis of ambiguous genitalia, face not only medical complexities but also emotional distress and confusion about their options under the PCPNDT Act. There is a pressing need for clearer guidelines and support mechanisms to navigate these sensitive issues while upholding the ethical principles of patient autonomy and informed decision-making.

Prenatal diagnosis of ambiguous genitalia using ultrasound is a challenging but important aspect of foetal assessment, potentially detectable as early as the second trimester [2]. Key ultrasound findings may include a discrepancy between genetic sex and genital appearance, an inability to visualise male or female genitalia, the presence of a genital tubercle with atypical length or angle, and an abnormal appearance of labioscrotal folds [3]. In cases where ambiguous genitalia are suspected, a detailed ultrasound examination should focus on the foetal genitourinary tract anatomy, adrenal glands, and other potential associated anomalies [4]. When ambiguous genitalia are observed during an ultrasound, we, as radiologists, should document their findings accurately in the ultrasound report. It is important to maintain impartiality in reporting ultrasound findings related to ambiguous genitalia, while also avoiding gender-specific language or implications in the report. Additionally, it is essential not to disclose or communicate the sex or gender identity based on ambiguous genitalia to the patient or their family members.

Managing cases of ambiguous genitalia requires a sensitive and systematic approach that balances medical care with legal and ethical considerations [5]. When ambiguous genitalia are detected, it is crucial to consult with specialists in paediatric endocrinology or paediatric surgery for a thorough medical evaluation, which may include genetic testing, hormone analysis, and imaging studies [6]. The choice of genetic test depends on clinical presentation, family history, and initial hormonal and imaging findings, often requiring a stepwise approach guided by a multidisciplinary team [7]. Fluorescence In Situ Hybridisation (FISH) can rapidly detect sex chromosome aneuploidies [8]. Chromosomal Microarray Analysis (CMA) offers higher resolution, identifying submicroscopic deletions or duplications associated with Disorders of Sex Development (DSDs) [9]. Next-Generation Sequencing (NGS) techniques, including targeted gene panels, Whole-Exome Sequencing (WES), and Whole-Genome Sequencing (WGS), have revolutionised genetic diagnosis by simultaneously analysing multiple genes associated with DSDs [10]. This initial step is essential for diagnosing the underlying condition and determining appropriate treatment options.

Under “The Prenatal Diagnostic Techniques (Regulation and Prevention of Misuse) Amendment Act 2003,” Section 4 provides the regulation of prenatal diagnostic techniques [11]. This act also addresses the misuse of sex determination conducted under the pretext of diagnosing DSDs, which may lead to the suspension or cancellation of the registrations of the diagnostic centres and doctors involved. Depending on the severity, they may also face strict legal action. Furthermore, adherence to the guidelines outlined in the PCPNDT Act is imperative throughout the evaluation and treatment process [1]. This includes reporting cases to the State Appropriate Authority (SAA) or District Appropriate Authority (DAA) if they are suspected to indicate a genetic or developmental disorder [1]. Documentation of all medical evaluations, consultations, and reports is essential for legal compliance and to uphold confidentiality while respecting the privacy of the affected individuals and their families [11,12].

It is important to recognise that each case of ambiguous genitalia is unique and requires personalised care that prioritises the wellbeing and dignity of the individual. Healthcare providers must navigate the legal complexities surrounding gender determination under Indian law, ensuring that any such determinations are medically justified and conducted ethically.

In conclusion, raising awareness about the challenges and protocols involved in managing cases of ambiguous genitalia under the PCPNDT Act is crucial for promoting informed and compassionate healthcare practices in our society.

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